Genetics and Genomics Flashcards
It is the study of SINGLE genes.
Genetics
It is the study of gene functions, interactions, and the environment.
Genomics
A gene that influences the chances of an individual in developing a condition.
Susceptibility Gene
TRUE OR FALSE
All diseases and medical conditions have a genetic component.
FALSE
TRAUMA is a medical condition that is not related to genetic components
It is the development of drugs that specifically target mutations or their products.
Pharmacogenomics
They are the individual segments of DNA.
Genes
It is the singular term for a tightly-coiled strand of DNA.
Chromosome
TRUE OR FALSE
INTRONS are coding sequences while EXONS are non-coding.
FALSE
INTRONS are non-coding sequences while EXONS are coding sequences.
TRUE OR FALSE
The PHENOTYPE refers the observable manifestations of genetic expression while the GENOTYPE refers to the genetic composition.
TRUE
This refers to the normal variants in genes that makes individuals unique from one another.
Polymorphism
These are changes in the genetic code that causes or may influence the manifestation of diseases.
Mutations
YES OR NO - the ff. mutations are matched with their correct descriptions:
Acquired - mutates during embryonic development
Inherited - randomly arises in a body cell and is present in all subsequent body cells
Germline - passed on from parents to offspring
Somatic - mutations on either egg or sperm cell which may or may not be passed on to develop related conditions
NO
Acquired - mutates during embryonic development
Inherited -passed on from parents to offspring
Germline - mutations on either egg or sperm cell which may or may not be passed on to develop related conditions
Somatic - randomly arises in a body cell and is present in all subsequent body cells
YES OR NO - the ff. are matched with their correct descriptions
Point mutation - affects a single nucleotide only
Deletion - the removal of a nucleotide sequence
Insertion - the addition of nucleotide/s
Increased repeated - the expansion of repeated nucleotides
YES
TRUE OR FALSE
There are five (5) types and principles of Mendelian Inheritance
FALSE
There are only four (4) - namely:
(1) Autosomal Dominant
(2) Autosomal Recessive
(3) X-linked Dominant
(4) X-linked Recessive
It is an all or nothing trait that determines the probability of a mutated allele expressing itself.
Penetrance
It refers to the degree and severity when a mutated allele manifests itself.
Expressivity
It is a progressive disorder of motor, cognitive, and psychiatric functions. Full penetrance happens when CHG repeat is >40. It is an autosomal dominant disorder.
Huntington’s Disease (HD)
It is an autosomal dominant disorder characterized by axillary and inguinal freckling, Cafe-au-lait spots, and increased benign tumor development.
Neurofibromatosis Type 1 (NF1)
It is an autosomal recessive condition which causes Leu, Ile, and Val buildup secondary to defective BCKD proteins.
Maple Syrup Urine Disease (MUSD)
It is an X-linked recessive condition that is characterized by the lack of a specific enzyme which is extremely important in cellular metabolism.
G6PD Deficiency
It is an X-linked recessive disorder characterized by dystonia and has its maternal roots from the Panay Islands.
X-linked Dystonia Parkinsonism
It is an X-linked dominant condition caused by mutations in the MECP2 gene. The condition is lethal to males.
Rett Syndrome
It is caused by having an extra copy of the 21st chromosome.
Trisomy 21 / Down Syndrome